List of variants reported as uncertain risk allele for autosomal recessive disease by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)	rs58806616	0.00296
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)	rs149096794	0.00163
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)	rs189032342	0.00097
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)	rs199874928	0.00078
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)	rs200054604	0.00048
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)	rs200586877	0.00017
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)	rs368957150	0.00012
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly)	rs768090632	0.00001

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